Variant (rsID / SNP)

rs743616

rs743616 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ARSA. Location: chromosome 22, position 51,064,039. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ARSABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 22:51064039
Cytoband: 22q13.33
HGVS: NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser)
Allele change: Missense_T307S

Associated conditions / phenotypes

Metachromatic leukodystrophy

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.